A 3-base pair insertional mutation in the choroideremia gene.
Nesslinger
N
N
Ocular Genetics Laboratory, Department of Ophthalmology, University of Alberta, Edmonton, Canada.
Horrocks
S
S
Ray
P N
PN
Strasberg
P
P
MacDonald
I M
IM
D000595:Amino Acid Sequence; D001483:Base Sequence; D015794:Choroideremia / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
D018388:Codon, Terminator; D004247:DNA